List of variants in gene SBF1 reported as likely benign for Charcot-Marie-Tooth disease type 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002972.4(SBF1):c.5604T>C (p.Val1868=)	rs141053122	0.00332
NM_002972.4(SBF1):c.898-18G>A	rs369814596	0.00252
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)	rs202049257	0.00229
NM_002972.4(SBF1):c.1968+15G>A	rs41281539	0.00224
NM_002972.4(SBF1):c.868G>A (p.Ala290Thr)	rs201776298	0.00222
NM_002972.4(SBF1):c.2079C>T (p.His693=)	rs199672732	0.00188
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=)	rs373529561	0.00144
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=)	rs144773853	0.00131
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=)	rs201985055	0.00100
NM_002972.4(SBF1):c.2784C>T (p.Ala928=)	rs182040598	0.00092
NM_002972.4(SBF1):c.898-4G>A	rs377428323	0.00088
NM_002972.4(SBF1):c.2034G>A (p.Thr678=)	rs139798340	0.00066
NM_002972.4(SBF1):c.3905-9C>T	rs574807761	0.00053
NM_002972.4(SBF1):c.549+10G>A	rs187441948	0.00043
NM_002972.4(SBF1):c.1432-12G>A	rs377210668	0.00040
NM_002972.4(SBF1):c.2569+4C>T	rs200379541	0.00039
NM_002972.4(SBF1):c.142-3C>T	rs191369963	0.00038
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=)	rs570393243	0.00035
NM_002972.4(SBF1):c.3147-8G>C	rs182956712	0.00030
NM_002972.4(SBF1):c.2697C>A (p.Gly899=)	rs374888082	0.00024
NM_002972.4(SBF1):c.2967+8G>A	rs374708421	0.00021
NM_002972.4(SBF1):c.5595G>A (p.Thr1865=)	rs371139013	0.00017
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=)	rs534889802	0.00014
NM_002972.4(SBF1):c.1164C>T (p.Val388=)	rs376600058	0.00011
NM_002972.4(SBF1):c.4047A>T (p.Arg1349=)	rs894127251	0.00011
NM_002972.4(SBF1):c.3399C>T (p.Leu1133=)	rs367869582	0.00005
NM_002972.4(SBF1):c.219C>T (p.Ile73=)	rs750211528	0.00003
NM_002972.4(SBF1):c.1917C>T (p.Asp639=)	rs750516504	0.00002
NM_002972.4(SBF1):c.651G>A (p.Gln217=)	rs1292863100	0.00002
NM_002972.4(SBF1):c.3462G>T (p.Pro1154=)	rs371815025	0.00001
NM_002972.4(SBF1):c.1749+20C>T
NM_002972.4(SBF1):c.2358C>T (p.Gly786=)
NM_002972.4(SBF1):c.2799G>A (p.Thr933=)	rs774121119
NM_002972.4(SBF1):c.2967+16C>T	rs369279620
NM_002972.4(SBF1):c.4369-11G>C	rs199878169

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.